Canonical Allele Identifier: CA366080374

Gene: SYNE1

Linked Data

• COSMIC: COSM1545065 ; COSM1545066 ; COSM1545067 ; COSM4438402 ; COSM4438403
• MyVariant Identifiers: chr6:g.152461191C>A (hg19) ; chr6:g.152140056C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140056C>A , CM000668.2:g.152140056C>A	GRCh38
NC_000006.11:g.152461191C>A , CM000668.1:g.152461191C>A	GRCh37
NC_000006.10:g.152502884C>A	NCBI36
NG_012855.1:g.502344G>T
NG_012855.2:g.502344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1886G>T MANE Plus Clinical	ENSP00000346701.4:p.Ser629Ile
ENST00000367255.10:c.25352G>T MANE Select	ENSP00000356224.5:p.Ser8451Ile
ENST00000423061.6:c.25208G>T	ENSP00000396024.1:p.Ser8403Ile
ENST00000672154.1:c.754G>T
ENST00000672169.1:c.1087G>T
ENST00000673173.1:c.996G>T
ENST00000673451.1:c.1124G>T	ENSP00000500189.1:p.Ser375Ile
ENST00000341594.9:c.24137G>T	ENSP00000341887.6:p.Ser8046Ile
ENST00000347037.9:n.2100G>T
ENST00000354674.4:c.1886G>T	ENSP00000346701.4:p.Ser629Ile
ENST00000367251.7:c.4187G>T	ENSP00000356220.3:p.Ser1396Ile
ENST00000367255.9:c.25352G>T	ENSP00000356224.5:p.Ser8451Ile
ENST00000367256.9:n.9044G>T
ENST00000367257.8:c.3290G>T	ENSP00000356226.4:p.Ser1097Ile
ENST00000409694.6:n.8936G>T
ENST00000423061.5:c.25208G>T	ENSP00000396024.1:p.Ser8403Ile
ENST00000460912.6:n.1966G>T
ENST00000478916.5:n.4374G>T
ENST00000536990.5:n.2189G>T
ENST00000539504.5:c.1817G>T	ENSP00000441052.1:p.Ser606Ile
NM_033071.3:c.25208G>T	NP_149062.1:p.Ser8403Ile
NM_182961.3:c.25352G>T	NP_892006.3:p.Ser8451Ile
XM_006715407.1:c.25457G>T	XP_006715470.1:p.Ser8486Ile
XM_006715408.1:c.25445G>T	XP_006715471.1:p.Ser8482Ile
XM_006715409.1:c.25436G>T	XP_006715472.1:p.Ser8479Ile
XM_006715410.1:c.25457G>T	XP_006715473.1:p.Ser8486Ile
XM_006715411.1:c.25406G>T	XP_006715474.1:p.Ser8469Ile
XM_006715412.1:c.25442G>T	XP_006715475.1:p.Ser8481Ile
XM_006715413.1:c.25388G>T	XP_006715476.1:p.Ser8463Ile
XM_006715414.1:c.25385G>T	XP_006715477.1:p.Ser8462Ile
XM_006715415.1:c.25388G>T	XP_006715478.1:p.Ser8463Ile
XM_006715416.1:c.25373G>T	XP_006715479.1:p.Ser8458Ile
XM_006715417.1:c.25316G>T	XP_006715480.1:p.Ser8439Ile
XM_006715420.1:c.25304G>T	XP_006715483.1:p.Ser8435Ile
XM_006715421.1:c.25301G>T	XP_006715484.1:p.Ser8434Ile
XM_006715422.1:c.25298G>T	XP_006715485.1:p.Ser8433Ile
XM_006715423.1:c.25457G>T	XP_006715486.1:p.Ser8486Ile
XM_006715424.1:c.25457G>T	XP_006715487.1:p.Ser8486Ile
XM_006715425.1:c.25388G>T	XP_006715488.1:p.Ser8463Ile
XM_011535641.1:c.25454G>T	XP_011533943.1:p.Ser8485Ile
XM_011535642.1:c.25442G>T	XP_011533944.1:p.Ser8481Ile
XM_011535643.1:c.25292G>T	XP_011533945.1:p.Ser8431Ile
XM_011535644.1:c.23732G>T	XP_011533946.1:p.Ser7911Ile
XM_011535645.1:c.23225G>T	XP_011533947.1:p.Ser7742Ile
XM_011535647.1:c.18692G>T	XP_011533949.1:p.Ser6231Ile
NM_001347701.1:c.1958G>T	NP_001334630.1:p.Ser653Ile
NM_001347702.1:c.1886G>T	NP_001334631.1:p.Ser629Ile
XM_006715408.2:c.25445G>T	XP_006715471.1:p.Ser8482Ile
XM_006715410.2:c.25457G>T	XP_006715473.1:p.Ser8486Ile
XM_006715412.2:c.25442G>T	XP_006715475.1:p.Ser8481Ile
XM_006715413.2:c.25388G>T	XP_006715476.1:p.Ser8463Ile
XM_006715415.2:c.25388G>T	XP_006715478.1:p.Ser8463Ile
XM_006715416.2:c.25373G>T	XP_006715479.1:p.Ser8458Ile
XM_006715417.2:c.25316G>T	XP_006715480.1:p.Ser8439Ile
XM_006715420.2:c.25304G>T	XP_006715483.1:p.Ser8435Ile
XM_006715421.2:c.25301G>T	XP_006715484.1:p.Ser8434Ile
XM_006715423.2:c.25457G>T	XP_006715486.1:p.Ser8486Ile
XM_006715424.2:c.25457G>T	XP_006715487.1:p.Ser8486Ile
XM_006715425.2:c.25388G>T	XP_006715488.1:p.Ser8463Ile
XM_011535641.2:c.25454G>T	XP_011533943.1:p.Ser8485Ile
XM_011535642.2:c.25442G>T	XP_011533944.1:p.Ser8481Ile
XM_011535645.2:c.23225G>T	XP_011533947.1:p.Ser7742Ile
XM_017010608.1:c.25457G>T	XP_016866097.1:p.Ser8486Ile
XM_017010609.1:c.25457G>T	XP_016866098.1:p.Ser8486Ile
XM_017010610.1:c.25436G>T	XP_016866099.1:p.Ser8479Ile
XM_017010611.2:c.25430G>T	XP_016866100.1:p.Ser8477Ile
XM_017010612.1:c.25379G>T	XP_016866101.1:p.Ser8460Ile
XM_017010613.1:c.25385G>T	XP_016866102.1:p.Ser8462Ile
XM_017010614.1:c.25301G>T	XP_016866103.1:p.Ser8434Ile
XM_017010615.1:c.25232G>T	XP_016866104.1:p.Ser8411Ile
XM_017010616.1:c.25388G>T	XP_016866105.1:p.Ser8463Ile
XM_017010617.1:c.25385G>T	XP_016866106.1:p.Ser8462Ile
XM_017010618.1:c.25373G>T	XP_016866107.1:p.Ser8458Ile
XM_017010619.1:c.23732G>T	XP_016866108.1:p.Ser7911Ile
NM_182961.4:c.25352G>T MANE Select	NP_892006.3:p.Ser8451Ile
NM_001347701.2:c.1958G>T	NP_001334630.1:p.Ser653Ile
NM_001347702.2:c.1886G>T MANE Plus Clinical	NP_001334631.1:p.Ser629Ile
NM_033071.5:c.25208G>T	NP_149062.2:p.Ser8403Ile